Cargando…

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Jong Seop, Jeon, Hyoungseok, Lee, Hyeran, Ko, Jung Min, Kim, Yonghwan, Choi, Murim, Nishimura, Gen, Kim, Ok-Hwa, Cho, Tae-Joon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105406/ https://www.ncbi.nlm.nih.gov/pubmed/33963180 http://dx.doi.org/10.1038/s41439-021-00149-7

Ejemplares similares

Fatal systemic disorder caused by biallelic variants in FARSA
por: Kim, Soo Yeon, et al.
Publicado: (2022)

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
por: Guo, Long, et al.
Publicado: (2017)

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
por: Takizaki, Nao, et al.
Publicado: (2020)

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
por: Takagi, Masaki, et al.
Publicado: (2014)

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
por: Kusano, Chieko, et al.
Publicado: (2017)

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
por: Seo, Jieun, et al.
Publicado: (2020)

Data on coincidence site lattice boundaries of abnormally growing Goss grains in Fe-3%Si steel
por: Kim, Tae-young
Publicado: (2022)

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
por: Yang, Neng, et al.
Publicado: (2020)

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye
por: Pölsler, Laura, et al.
Publicado: (2020)

Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
por: Moon, Byungseung, et al.
Publicado: (2022)

Tensile property improvement of TWIP-cored three-layer steel sheets fabricated by hot-roll-bonding with low-carbon steel or interstitial-free steel
por: Park, Jaeyeong, et al.
Publicado: (2017)

Crystal structure of triclopyr
por: Cho, Seonghwa, et al.
Publicado: (2014)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
por: Won, Joon Yeon, et al.
Publicado: (2019)

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
por: Hayashi, Shion, et al.
Publicado: (2018)

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
por: Chong, Shuk Ching, et al.
Publicado: (2022)

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
por: Gonzaga-Jauregui, Claudia, et al.
Publicado: (2020)

ColPortal, an integrative multiomic platform for analysing epigenetic interactions in colorectal cancer
por: Esteban-Gil, Angel, et al.
Publicado: (2019)

Data of methylome and transcriptome derived from human dilated cardiomyopathy
por: Jo, Bong-Seok, et al.
Publicado: (2016)

Crystal structure of cyprodinil
por: Jeon, Youngeun, et al.
Publicado: (2015)

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma
por: Muto, Kohei, et al.
Publicado: (2021)

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
por: Akahira-Azuma, Moe, et al.
Publicado: (2022)

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
por: Sato, Yota, et al.
Publicado: (2018)

A rare homozygous missense mutation of COL7A1 in a Vietnamese family
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

Novel missense COL2A1 variant in a fetus with achondrogenesis type II
por: Kobayashi, Yukari, et al.
Publicado: (2022)

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
por: Lee, Youngha, et al.
Publicado: (2020)

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
por: Shimojima Yamamoto, Keiko, et al.
Publicado: (2023)

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
por: Jørgensen, Agnete, et al.
Publicado: (2015)

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome
por: Kohmoto, Tomohiro, et al.
Publicado: (2016)

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
por: Kohmoto, Tomohiro, et al.
Publicado: (2015)

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
por: Watanabe, Miki, et al.
Publicado: (2016)

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
por: Yakabe, Ayane, et al.
Publicado: (2022)

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
por: Niida, Yo, et al.
Publicado: (2023)

The genome of the Antarctic-endemic copepod, Tigriopus kingsejongensis
por: Kang, Seunghyun, et al.
Publicado: (2017)

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
por: Maroofian, Reza, et al.
Publicado: (2023)

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
por: Kuchinskaya, Ekaterina, et al.
Publicado: (2016)

Crystal structure of anilazine
por: Jeon, Youngeun, et al.
Publicado: (2014)

Crystal structure of pymetrozine
por: Jeon, Youngeun, et al.
Publicado: (2015)

Crystal structure of azimsulfuron
por: Jeon, Youngeun, et al.
Publicado: (2015)

Crystal structure of oryzalin
por: Kang, Gihaeng, et al.
Publicado: (2015)

Crystal structure of [1,1′-biphenyl]-2,2′-dicarbonitrile
por: Kang, Gihaeng, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_g4ciqcqvcrbiocmglm336c8agl